Overview

• The proteomic test analyzes over 8,000 proteins from a single milliliter of blood, covering more than 50% of known Mendelian and mitochondrial disease genes.
• With an 83% accuracy rate, the test significantly reduces diagnostic times, providing results in less than three days for urgent cases.
• Trio analysis, which includes parental samples, helps differentiate between carriers and affected children in recessive genetic conditions.
• The test could replace multiple invasive functional tests, cutting healthcare costs and easing the diagnostic burden for families.
• Initial trials are underway in Australia, with partnerships forming in the U.K. and U.S. to integrate the test into clinical labs.